Abstract library

175 results for "whole genome sequencing".
#2982 Comprehensive Molecular Analysis Identifies Driver Mutations in Metastases of Sporadic Well-Differentiated Neuroendocrine Tumours of the Small Intestine
Introduction: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogenous group of tumours. The molecular mechanisms which contribute to progression of SI-NETs are poorly elucidated. They are considered to be molecularly distinct from neuroendocrine carcinomas (NECs), which share oncogenic pathways with adenocarcinomas.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Drs Kris Samsom
#2964 Personalized Therapy in a Case of Esophageal NEC Based on Tumor Genome Sequencing
Introduction: High-grade esophageal neuroendocrine carcinomas (NEC) constitute a rare subgroup of neuroendocrine neoplasms, with a particularly aggressive behaviour and unfavourable prognosis. To date, there are no validated biomarkers for personalized therapy and cytotoxic chemotherapy remains the standard of care. However, tumor genome sequencing may help improve NEC molecular landscape knowledge in order to identify novel targets for an individualized approach.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: MD Anna La Salvia
#2855 Whole Exome Sequencing Reveals the Monoclonal Origin of Gastric Mixed Adenoneuroendocrine Carcinomas
Introduction: Gastric mixed adenoneuroendocrine carcinomas (g-MANECs) are rare neoplasms consisting of adenocarcinoma and neuroendocrine neoplastic components. G-MANECs show more malignant characteristics than gastric adenocarcinomas, while molecular mechanisms underlying the co-existence of the two components remains unknown.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: M.D. Shida Yan
Authors: Yan S, Chen X, Zhang R, Song L, ...
#2781 Case Report: Whole Exon Sequencing of Primary Lesion and Metastatic Liver Lesion in Pancreatic Neuroendocrine Tumor
Introduction: Pancreatic neuroendocrine neoplasms(NENs) are classified into neuroendocrine tumors (NET) G1, G2, G3, and neuroendocrine carcinoma (NEC), which are different pathogenesis. The two kinds of tumors that occurs in the same lesion in one patient is very rare. We found high grade neuroendocrine neoplasms(NENG3) with a diameter of 0.1 cm in a patient with a pancreatic NETG2 (1.7 cm in diameter). The cells were significant atypia with Ki67 index of 60%, focal necrosis, while metastatic nodules in the liver (12, 0.1-1.1 cm in diameter) were all high grade NENG3.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Case reports
Presenting Author: Yanfen Shi
Authors: Shi Y, Zhong D, Li Y, Niu Y, ...
#2896 Comparative Genomic Analysis of High Grade Neuroendocrine Neoplasms across Diverse Organs
Introduction: Grade 3 neuroendocrine neoplasms (G3 NENs), if poorly differentiated, have a median survival of 10-19 months. Little is known regarding biologic differences between G3 NENs from different primary sites, most commonly GI and lung.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Thomas Yang Sun
#2846 Whole Genome DNA Methylation Profiling Identifies Neuroendocrine Tumor Origin
Introduction: Determining the origin of a neuroendocrine tumor (NET) of unknown primary can be challenging. Liver metastases can originate from any organ in the body, while pulmonary NETs can be metastases but also primary tumors. This especially holds true for Multiple Endocrine Neoplasia Type 1 patients, who often have multiple primary pancreatic and intestinal NETs. It is important to know the origin of the primary tumor since resection or ablation is crucial in case of treatment with curative intent. Furthermore, the site of origin determines prognosis, treatment options and eligibility for clinical trials.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Wenzel M Hackeng
#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Category: Basic
Presenting Author: Mr. Joakim Crona
#722 Isolation and Whole Genome Amplification of Single Circulating Tumor Cells in Neuroendocrine Tumors: A Pilot Study
Introduction: We have previously demonstrated that Circulating Tumor Cells (CTCs) can be detected in patients with neuroendocrine tumors (NET) and that their presence is prognostic. Downstream analysis of CTCs provides an opportunity to explore their potential as biomarker for targeted therapy. Here we present initial data which demonstrates that molecular profiling can be successfully performed on single CTCs from patients with NETs
Conference: 10th Annual ENETS Conference 2013 (2013)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Dr Dalvinder Mandair
#775 Whole Exome Sequence Of BON-1 And QGP-1, Two Human Pancreatic Neuroendocrine Tumor Cell Lines, Reveals Homozygous Loss Of Function Mutations In TP53, HRNR and CYFIP2.
Introduction: The human BON-1 and QGP-1 cell lines are two models often used in pancreatic neuroendocrine tumor (PNET) research. Data on protein-changing mutations in these cell lines is lacking.
Conference: 10th Annual ENETS Conference 2013 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Timon Vandamme
#2076 Pancreatic Neuroendocrine Tumor in Polish Population with MEN 1 Syndrome
Introduction: The multiple endocrine neoplasia type 1 (MEN 1) is a genetically conditioned syndrome which is characterised by usually mild parathyroid and pituary gland adenomas, pancreatic neuroendocrine tumor (pNET). The last appear in 30-70% of MEN 1 patients being main life-threatening manifstation among MEN 1 patients. The prognosis might improve by presymptomatic tumor detection.
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Endocrine malignancies (MTC, pheochromocytoma) - diagnosis and therapy
Presenting Author: MD Przemysław Soczomski